"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EMD"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1066332	NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	EMD (K37del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1048788	NM_000117.3(EMD):c.173C>T (p.Ser58Phe)	EMD (S58F)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1416029	NM_000117.3(EMD):c.241G>A (p.Asp81Asn)	EMD (D81N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 42273	NM_000117.3(EMD):c.396C>T (p.His132=)	EMD	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 841836	NM_000117.3(EMD):c.399+10C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 137207	NM_000117.3(EMD):c.399+18C>T	EMD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1156869	NM_000117.3(EMD):c.400-6C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy	GLikely benign
Select item 283321	NM_000117.3(EMD):c.449+4C>T	EMD	Single nucleotide variant (intron variant)	X-linked Emery-Dreifuss muscular dystrophy +2 more	GUncertain significance
Select item 201773	NM_000117.3(EMD):c.449+5G>A	EMD	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 289762	NM_000117.3(EMD):c.460A>G (p.Met154Val)	EMD (M154V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1405347	NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	EMD (Y167C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1017320	NM_000117.3(EMD):c.593C>T (p.Ser198Phe)	EMD (S198F)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 163404	NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	EMD (W200R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1315219	NM_000117.3(EMD):c.620G>A (p.Arg207Gln)	EMD (R207Q)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 1512845	NM_000117.3(EMD):c.631C>T (p.Arg211Cys)	EMD (R211C)	Single nucleotide variant (missense variant)	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance